Abnormal Offspring Syndrome

Rivera, Rocío Melissa; Donnelly, Callum G.; Patel, Bhaumik Narendrabhai; Li, Yahan; Soto‐Moreno, Edgar Joel

doi:10.1002/9781119602484.ch71

Cited by 11 publications

(26 citation statements)

References 193 publications

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“…We and others have reported that ART-LOS is an epigenetic disorder 17,18 with global alterations of transcriptome and methylome, changes in chromosomal architecture, and loss-of-imprinting at multiple imprinted domains including IGF2R, KCNQ1, IGF2, PLAGL1, PEG3 , and DLK1 3,4,17–23 . Although we recently documented that LOS occurs spontaneously, at least based on phenotypes 2,14 , no data exist to demonstrate that the spontaneous overgrowth syndrome shares epigenotype with the ART-induced LOS.…”

Section: Introductionmentioning

confidence: 99%

“…Large/abnormal offspring syndrome (LOS/AOS) is a congenital overgrowth syndrome that has been reported in ruminants 1,2 . Frequently observed features include macrosomia, macroglossia, umbilical hernia, organomegaly, placentomegaly, hydrallantois, increased gestation length, and increased dystocia rate 3–13 .…”

Section: Introductionmentioning

confidence: 99%

“…Frequently observed features include macrosomia, macroglossia, umbilical hernia, organomegaly, placentomegaly, hydrallantois, increased gestation length, and increased dystocia rate 3–13 . Most of the LOS reported in the literature have involved the use of assisted reproductive technologies (ART) 3–13 ; however, we recently reported that LOS can occur spontaneously 2,14 , a phenomenon that in some cases may have been incorrectly ascribed to the sire’s genetics 15,16 . Currently, there is a lack of documented incidence for both spontaneous LOS (SLOS) and ART associated LOS (ART-LOS) from the industry, although those experiencing them in their farm or practice incur steep financial losses 2 .…”

Section: Introductionmentioning

confidence: 99%

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Spontaneous and ART-induced large offspring syndrome: similarities and differences in DNA methylome

Lopes

Coy

et al. 2022

Preprint

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Large/abnormal offspring syndrome (LOS/AOS) is a congenital overgrowth syndrome reported in ruminants produced by assisted reproduction (ART-LOS) which exhibit global disruption of the epigenome and transcriptome. LOS/AOS shares phenotypes and epigenotypes with the human congenital overgrowth condition Beckwith-Wiedemann syndrome. We have reported that LOS occurs spontaneously (SLOS), however, to date, no study has been conducted to determine if SLOS has the same methylome epimutations as ART-LOS. In this study, we performed whole genome bisulfite sequencing to examine global DNA methylation in SLOS and ART-LOS tissues. We observed unique patterns of global distribution of differentially methylated regions (DMRs) over different genomic contexts, such as promoters, CpG islands and surrounding regions, and repetitive sequences from different treatment groups. In addition, we identified hundreds of LOS-vulnerable DMRs across different cattle breeds when analyzing four idependent LOS experiments together. Specifically, there are 25 highly vulnerable DMRs that could potentially serve as molecular markers for the diagnosis of LOS, including at the promoters of DMRT2 and TBX18, at the imprinted gene bodies of IGF2R, PRDM8, and BLCAP/NNAT, and at multiple CpG islands. We also observed tissue-specific DNA methylation patterns between muscle and blood, and conservation of ART-induced DNA methylation changes between muscle and blood. We conclude that as in ART-LOS, alterations of the epigenome are involved in the etiology of SLOS. In addition, SLOS and ART-LOS share some similarities in methylome epimutations.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Spontaneous and ART-induced large offspring syndrome: similarities and differences in DNA methylome

Lopes

Coy

et al. 2022

Preprint

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“…Large/abnormal offspring syndrome (LOS/AOS) is a naturally occurring congenital overgrowth syndrome in ruminants and its incidence increases with the use of assisted reproductive technologies (ART) ( Rivera et al., 2021 ). Frequently observed abnormal phenotypes in LOS include macrosomia, omphalocele, and abnormal organ development ( Rivera et al., 2021 ). Gestational problems associated with the dam include dystocia and in some cases fetal and/or maternal death ( Rivera et al., 2021 ).…”

Section: Introductionmentioning

confidence: 99%

Allele-specific aberration of imprinted domain chromosome architecture associates with large offspring syndrome

Boadu

Highsmith

et al. 2022

iScience

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“…Serum has been experimentally determined to cause LOS in sheep [16][17][18] and bovine offspring derived from embryos cultured in serum containing medium can develop LOS 2 . In addition, the syndrome can also occur in fetuses and calves derived from embryos cultured without serum supplementation 19,20 and, more recently, we have documented that this syndrome occurs spontaneously in cattle produced by natural or artificial insemination [21][22][23] . The latter is of interest as there is a similar loss-of-imprinting overgrowth syndrome in humans, namely Beckwith-Wiedemann syndrome, which occurs naturally, and its incidence is increased in children conceived by ART 24 .…”

Section: Introductionmentioning

confidence: 97%

Identification of large offspring syndrome during pregnancy through ultrasonography and maternal blood transcriptome analyses

Rivera

Goldkamp

Patel

et al. 2022

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The use of assisted reproductive technologies (ART) in cattle can result in large/abnormal offspring syndrome (LOS/AOS) which is characterized by macrosomia. LOS can cause dystocia and lead to the death of dam and calf. Currently, no test exists to identify LOS pregnancies. We hypothesized that fetal ultrasonography and/or maternal blood markers are useful to identify LOS. Bovine fetuses were generated by artificial insemination (control) or IVP. Fetal ultrasonographies were taken on gestation day 55 (D55) and fetal collections performed on D56 or D105 (gestation in cattle ~280 days). ART fetuses weighing ~97 percentile of the control weight were considered LOS. Ultrasonography results show that the product of six D55 measurements can be used to identify extreme cases of LOS. To determine whether maternal blood can be used to identify LOS, leukocyte mRNA from 23 females was sequenced. Unsupervised hierarchical clustering grouped the transcriptomes of the two females carrying the two largest LOS fetuses. Comparison of the leukocyte transcriptomes of these two females to the transcriptome of all other females identified several misregulated transcripts on gestation D55 and D105 with LOC783838 and PCDH1 being misregulated at both time-points. Together our data suggest that LOS is identifiable during pregnancy in cattle.

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Abnormal Offspring Syndrome

Cited by 11 publications

References 193 publications

Spontaneous and ART-induced large offspring syndrome: similarities and differences in DNA methylome

Spontaneous and ART-induced large offspring syndrome: similarities and differences in DNA methylome

Allele-specific aberration of imprinted domain chromosome architecture associates with large offspring syndrome

Identification of large offspring syndrome during pregnancy through ultrasonography and maternal blood transcriptome analyses

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